What is Epilepsy?
Epilepsy is a serious and chronic neurological disorder characterized by recurrent and unprovoked seizures caused by abnormal brain activity. Recurrent seizures can not only severely disrupt patients’ quality of life, but epilepsy patients also experience higher mortality risk compared to the general population. Epilepsy is one of the most prevalent neurological disorders and affects an estimated 50 million individuals globally. It affects people of all ages, genders, and races.
Rare Genetic Epilepsy
Epilepsy has many causes, including genetics, brain injury, or infection. Genetic epilepsies are result from genetic mutations, often de novo single gene mutations, that trigger irregular brain activity and seizures. About 30-40% of epilepsy is caused by genetic predisposition. When the underlying cause of epilepsy impacts fewer than 200,000 people it is considered rare.
For some people, epilepsy can be well controlled with medication. But others face challenges when it comes to finding the right treatment. People with rare genetic epilepsies have an urgent need for new, more effective drugs.
One third of patients are drug-resistant, failing to respond to two or more anti-epileptic drugs
Many patients see limited benefit from anti-epileptic drugs, even when used in combination
Many anti-seizure medications have harmful side effects, with increased risk when multiple drugs are used
What is Dravet Syndrome?
Dravet Syndrome (DS) is a rare and drug-resistant form of epilepsy characterized by severe, difficult-to-treat seizures. DS begins in infancy and significantly impacts patients and their families and caregivers throughout their lives. A person with DS can experience dozens of convulsive seizures per day, despite use of three, four or more anti-seizure medications.
DS is a form of developmental and epileptic encephalopathy, which means that patients also experience developmental, cognitive, and behavioral issues, including impaired movement and balance, trouble sleeping, problems regulating bodily functions such as heart rate or body temperature, and increased susceptibility to infections.
~20,000 people have DS in the U.S. and Europe
80% of people with DS have an SCN1A gene mutation
DS occurs in approximately 1:15,700
What is Lennox-Gastaut Syndrome?
Lennox-Gaustat Syndrome (LGS) is a rare and drug-resistant form of epilepsy that begins around 3-5 years of age and significantly impacts patients throughout their lifetime. The causes of LGS are wide-ranging, with genetic differences and structural differences of the brain being the two major causes. LGS often causes atonic (drop) seizures where the body suddenly loses tone and falls, causing injury or death. These seizures are almost always resistant to treatment and may not respond to therapy despite the use of multiple anti-seizure medications.
LGS is a form of developmental and epileptic encephalopathy, which means that there are developmental, cognitive, and behavioral issues in addition to severe, difficult-to-treat seizures. Developmental delays and behavior issues can be severe, including aggression, poor balance and coordination, and problems with feeding and swallowing.
~100,000 LGS patients in the U.S. and Europe
LGS is believed to account for
1-4% of all childhood epilepsy cases
People with LGS often need intensive life-long care
Developmental and Epileptic Encephalopathy
What is Developmental and Epileptic Encephalopathy?
Developmental and Epileptic Encephalopathy (DEE) refers to a group of severe epilepsies that are characterized by drug-resistant seizures, behavioral issues, and developmental delays or loss of developmental skills. Most DEEs begin early in life, often starting in infancy. Patients suffer from very frequent and severe seizures, often for their entire lives.
Patients with DEEs typically have very abnormal EEGs
Many DEEs are related to gene variants
DEEs respond poorly
to most medications